Linkage studies between X-linked adrenoleukodystrophy and a cloned deoxyribonucleic acid fragment (St14), which detects polymorphisms in the distal end of the long arm of the X chromosome (Xq27-28), have shown no recombination in six families. The lod score for these data (and another kindred reported earlier is 13.766 at recombination fraction (theta) = 0.0. These data permit assignment of adrenoleukodystrophy carrier status in family members at risk, supplementing the chemical measurement of very-long-chain fatty acids.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ana.410210406 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis.
Eur J Endocrinol
March 2020
Child Health Section of University of Glasgow School of Medicine, Queen Elizabeth University Hospital, Glasgow, UK.
Objective: CYP11A1 mutations cause P450 side-chain cleavage (scc) deficiency, a rare form of congenital adrenal hyperplasia with a wide clinical spectrum. We detail the phenotype and evolution in a male sibship identified by HaloPlex targeted capture array.
Family Study: The youngest of three brothers from a non-consanguineous Scottish family presented with hyperpigmentation at 3.
Guillain Barré Syndrome in a Child With X-Linked Adrenoleukodystrophy.
Child Neurol Open
October 2015
Department of Pediatrics A, Ruth Rapport Children's Hospital, Rambam Health Care Campus, Technion Faculty of Medicine, Haifa, Israel.
X-Linked adrenoleukodystrophy is the most common peroxisomal disorder with different phenotypes among patients carrying the same ABCD1 mutation. There were previously reported associations of X-linked adrenoleukodystrophy with autoimmune disorders. The authors describe Guillain Barré syndrome in a child with X-linked adrenoleukodystrophy.
View Article and Find Full Text PDFIdentification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.
Neurogenetics
February 2011
Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo, Tokyo, 113-8655, Japan.
Adrenoleukodystrophy (ALD) is an X-linked disorder affecting primarily the white matter of the central nervous system occasionally accompanied by adrenal insufficiency. Despite the discovery of the causative gene, ABCD1, no clear genotype-phenotype correlations have been established. Association studies based on single nucleotide polymorphisms (SNPs) identified by comprehensive resequencing of genes related to ABCD1 may reveal genes modifying ALD phenotypes.
View Article and Find Full Text PDFLinking mutated primary structure of adrenoleukodystrophy protein with X-linked adrenoleukodystrophy.
Comput Methods Biomech Biomed Engin
June 2010
National Engineering Research Center for Non-Food Biorefinery, Guangxi Academy of Sciences, 98 Daling Road, Nanning, Guangxi Province 530007, P.R. China.
The phenotype expression in X-linked adrenoleukodystrophy is one of the most intriguing issues of the disease, because there is no general correlation between the type of ABCD1 gene mutation and the clinical phenotype. In this study, we use the cross-impact analysis to build a descriptively quantitative relationship between mutant adrenoleukodystrophy protein and classification of adrenoleukodystrophy with the amino-acid distribution probability, which is a quantitative measure sensitive to mutation. Then we determine the probability that the adrenoleukodystrophy can be classified under mutations with the help of a Bayesian equation.
View Article and Find Full Text PDFGene symbol: ABCD1.
Hum Genet
April 2007
Charles University, 1st Faculty of Medicine, Institute of Inherited Metabolic Disorders, Ke Karlovu, 2, 128 08 Prague, Czech Republic.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!